ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2556+92T>A

gnomAD frequency: 0.00222  dbSNP: rs550991929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243787 SCV000308453 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514685 SCV000610422 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000514685 SCV001693002 likely benign not provided 2022-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000514685 SCV001751181 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12673280)
Revvity Omics, Revvity RCV000514685 SCV003831151 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing

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